ClinVar for MedGen (Select 19892) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334433	NM_005529.7(HSPG2):c.10409G>A (p.Gly3470Glu)	HSPG2 (G3470E +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GUncertain significance
Select item 1285245	NM_005529.7(HSPG2):c.5575+31C>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1285244	NM_005529.7(HSPG2):c.5575+32T>C	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267249	NM_005529.7(HSPG2):c.7294+25G>A	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 1263480	NM_005529.7(HSPG2):c.2471+21A>G	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 1261953	NM_005529.7(HSPG2):c.7446+34C>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1261831	NM_005529.7(HSPG2):c.11352+25C>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1256801	NM_005529.7(HSPG2):c.7873+25A>C	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 1248089	NM_005529.7(HSPG2):c.1507+38A>G	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1242960	NM_005529.7(HSPG2):c.6133+19T>C	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1233017	NM_005529.7(HSPG2):c.4029+32T>A	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 1174648	NM_005529.7(HSPG2):c.11562+19C>T	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1119982	NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn)	HSPG2 (S71N)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 1119981	NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs)	HSPG2 (P3576fs +1 more)	Duplication (frameshift variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 1098428	NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)	HSPG2 (C3910* +1 more)	Single nucleotide variant (nonsense)	Schwartz-Jampel syndrome	GLikely pathogenic
Select item 1065495	NM_005529.7(HSPG2):c.1A>G (p.Met1Val)	HSPG2 (M1V)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome	GUncertain significance
Select item 1064625	NM_005529.7(HSPG2):c.4955+3A>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +1 more	GLikely pathogenic
Select item 1029973	NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)	HSPG2 (C3321R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GLikely pathogenic
Select item 1029970	NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro)	HSPG2, LOC126805655 (Q2183P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029969	NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met)	HSPG2, LOC126805655 (V2174M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GUncertain significance
Select item 982057	NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	HSPG2 (G3324R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GLikely pathogenic
Select item 972726	NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)	HSPG2 (C375W)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GLikely pathogenic
Select item 915382	NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln)	HSPG2 (R397Q)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 915381	NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn)	HSPG2, LOC126805655 (D2213N +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 877007	NM_005529.7(HSPG2):c.8055A>G (p.Gln2685=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876955	NM_005529.7(HSPG2):c.8458G>A (p.Val2820Ile)	HSPG2 (V2821I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876913	NM_005529.7(HSPG2):c.599C>T (p.Thr200Met)	HSPG2 (T200M)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 876912	NM_005529.7(HSPG2):c.8882G>A (p.Arg2961His)	HSPG2 (R2962H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876865	NM_005529.7(HSPG2):c.1012G>A (p.Ala338Thr)	HSPG2 (A338T)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876864	NM_005529.7(HSPG2):c.1033G>A (p.Asp345Asn)	HSPG2 (D345N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876863	NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp)	HSPG2 (V3135D +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 876804	NM_005529.7(HSPG2):c.1609C>T (p.Arg537Trp)	HSPG2 (R537W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876803	NM_005529.7(HSPG2):c.9890-7C>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 876711	NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)	HSPG2 (G3538R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 876667	NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)	HSPG2 (R3693W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
Select item 876626	NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876625	NM_005529.7(HSPG2):c.3543C>T (p.His1181=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876624	NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met)	HSPG2 (V3868M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 876569	NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg)	HSPG2 (S1283R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 876568	NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	HSPG2 (R4038L +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876567	NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro)	HSPG2 (L4048P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876525	NM_005529.7(HSPG2):c.4434C>T (p.Arg1478=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876471	NM_005529.7(HSPG2):c.4899C>T (p.Ala1633=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876470	NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876430	NM_005529.7(HSPG2):c.5686A>C (p.Thr1896Pro)	HSPG2 (T1896P +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876429	NM_005529.7(HSPG2):c.5701+8C>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876428	NM_001013693.3(LDLRAD2):c.*797C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876427	NM_001013693.3(LDLRAD2):c.*710C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GLikely benign
Select item 876426	NM_001013693.3(LDLRAD2):c.*702G>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876383	NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His)	HSPG2 (L2024H +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 876382	NM_001013693.3(LDLRAD2):c.*166G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876347	NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 876346	NM_005529.7(HSPG2):c.6629C>T (p.Pro2210Leu)	HSPG2, LOC126805655 (P2211L +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 876263	NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln)	HSPG2 (R2037Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 876262	NM_001013693.3(LDLRAD2):c.*83T>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GLikely benign
Select item 876217	NM_005529.7(HSPG2):c.6640G>A (p.Gly2214Ser)	HSPG2, LOC126805655 (G2214S +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876160	NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His)	HSPG2 (R2377H +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 876159	NM_005529.7(HSPG2):c.7138A>C (p.Ser2380Arg)	HSPG2 (S2381R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 876100	NM_005529.7(HSPG2):c.7559T>C (p.Ile2520Thr)	HSPG2 (I2520T +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876041	NM_005529.7(HSPG2):c.8143C>T (p.Pro2715Ser)	HSPG2 (P2716S +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876040	NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876039	NM_005529.7(HSPG2):c.8163C>T (p.Ser2721=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 876038	NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)	HSPG2 (A2722T +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875920	NM_005529.7(HSPG2):c.780A>T (p.Thr260=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 875919	NM_005529.7(HSPG2):c.8971T>G (p.Cys2991Gly)	HSPG2 (C2991G +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 875818	NM_005529.7(HSPG2):c.1676C>G (p.Ala559Gly)	HSPG2 (A559G +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 875817	NM_005529.7(HSPG2):c.1707G>A (p.Thr569=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875816	NM_005529.7(HSPG2):c.1870C>T (p.Arg624Cys)	HSPG2 (R625C +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875815	NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val)	HSPG2 (A3302V +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875767	NM_005529.7(HSPG2):c.2147T>C (p.Val716Ala)	HSPG2 (V717A +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875766	NM_005529.7(HSPG2):c.2195+4C>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875765	NM_005529.7(HSPG2):c.2251C>T (p.Arg751Trp)	HSPG2 (R751W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875764	NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu)	HSPG2 (P3442L +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875716	NM_005529.7(HSPG2):c.2633G>A (p.Arg878His)	HSPG2 (R878H +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 875715	NM_005529.7(HSPG2):c.2641G>A (p.Glu881Lys)	HSPG2 (E881K +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875671	NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser)	HSPG2 (P1052S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875670	NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp)	HSPG2 (R1067W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875669	NM_005529.7(HSPG2):c.11187G>A (p.Val3729=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875668	NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro)	HSPG2 (L3755P +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875626	NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met)	HSPG2 (T1182M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GUncertain significance
Select item 875625	NM_005529.7(HSPG2):c.11671+10C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 875624	NM_005529.7(HSPG2):c.11671+11C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875573	NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser)	HSPG2 (G1379S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875572	NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His)	HSPG2 (R4074H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 875571	NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)	HSPG2 (R4087W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875517	NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875516	NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser)	LDLRAD2, HSPG2 (G4331S +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875451	NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser)	HSPG2 (G1634S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GUncertain significance
Select item 875450	NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser)	HSPG2, LDLRAD2 (R4387S +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 875397	NM_005529.7(HSPG2):c.5701+9G>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875396	NM_001013693.3(LDLRAD2):c.*671C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GBenign
Select item 875395	NM_001013693.3(LDLRAD2):c.*572G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875394	NM_001013693.3(LDLRAD2):c.*551T>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875340	NM_001013693.3(LDLRAD2):c.*451C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875306	NM_005529.7(HSPG2):c.6133+12C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875251	NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His)	HSPG2, LOC126805655 (R2281H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
Select item 875093	NM_005529.7(HSPG2):c.8203T>G (p.Ser2735Ala)	HSPG2 (S2736A +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 875092	NM_005529.7(HSPG2):c.8205C>T (p.Ser2735=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 875052	NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys)	HSPG2 (E113K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 875051	NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro)	HSPG2 (R2870P +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance

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