2584[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1215254	NM_000213.5(ITGB4):c.3794-274A>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287294	NM_000213.5(ITGB4):c.3794-147C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 891167	NM_000213.5(ITGB4):c.3794-9C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 2911733	NM_000213.5(ITGB4):c.3794-6C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813455	NM_000213.5(ITGB4):c.3807C>T (p.Pro1269=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 325184	NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr)	GALK1, ITGB4 (M1270T)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 1800870	NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)	GALK1, ITGB4 (M1270I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2700095	NM_000213.5(ITGB4):c.3819G>C (p.Val1273=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005971	NM_000213.5(ITGB4):c.3840C>T (p.Asn1280=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 14742	NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)	GALK1, ITGB4 (R1281W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 325185	NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325186	NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 2086987	NM_000213.5(ITGB4):c.3865C>T (p.Arg1289Trp)	GALK1, ITGB4 (R1289W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1622476	NM_000213.5(ITGB4):c.3865C>A (p.Arg1289=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987887	NM_000213.5(ITGB4):c.3882C>T (p.Tyr1294=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905269	NM_000213.5(ITGB4):c.3883C>T (p.Arg1295Cys)	GALK1, ITGB4 (R1295C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 891168	NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His)	GALK1, ITGB4 (R1295H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2908234	NM_000213.5(ITGB4):c.3885C>A (p.Arg1295=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749786	NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 1925452	NM_000213.5(ITGB4):c.3890C>T (p.Thr1297Met)	GALK1, ITGB4 (T1297M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858046	NM_000213.5(ITGB4):c.3891G>T (p.Thr1297=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559364	NM_000213.5(ITGB4):c.3891G>A (p.Thr1297=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801856	NM_000213.5(ITGB4):c.3900G>A (p.Ala1300=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2594211	NM_000213.5(ITGB4):c.3901C>T (p.Arg1301Cys)	GALK1, ITGB4 (R1301C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2736650	NM_000213.5(ITGB4):c.3903dup (p.Asn1302fs)	GALK1, ITGB4 (N1302fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2620142	NM_000213.5(ITGB4):c.3902G>A (p.Arg1301His)	GALK1, ITGB4 (R1301H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2981655	NM_000213.5(ITGB4):c.3906C>T (p.Asn1302=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782296	NM_000213.5(ITGB4):c.3909G>A (p.Gly1303=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2123384	NM_000213.5(ITGB4):c.3909G>C (p.Gly1303=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2127837	NM_000213.5(ITGB4):c.3910G>A (p.Ala1304Thr)	GALK1, ITGB4 (A1304T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802512	NM_000213.5(ITGB4):c.3912C>G (p.Ala1304=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915979	NM_000213.5(ITGB4):c.3912C>T (p.Ala1304=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2663083	NM_000213.5(ITGB4):c.3913G>A (p.Gly1305Ser)	GALK1, ITGB4 (G1305S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770264	NM_000213.5(ITGB4):c.3917G>A (p.Trp1306Ter)	GALK1, ITGB4 (W1306*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2842898	NM_000213.5(ITGB4):c.3921G>C (p.Gly1307=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899936	NM_000213.5(ITGB4):c.3928C>T (p.Arg1310Trp)	GALK1, ITGB4 (R1310W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2702536	NM_000213.5(ITGB4):c.3930G>A (p.Arg1310=)	ITGB4, GALK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004686	NM_000213.5(ITGB4):c.3933G>A (p.Glu1311=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902953	NM_000213.5(ITGB4):c.3945C>T (p.Asn1315=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823168	NM_000213.5(ITGB4):c.3946C>T (p.Leu1316=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2697631	NM_000213.5(ITGB4):c.3960C>G (p.Pro1320=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007577	NM_000213.5(ITGB4):c.3976+10G>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021937	NM_000213.5(ITGB4):c.3976+13C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971623	NM_000213.5(ITGB4):c.3976+14A>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 325187	NM_000213.5(ITGB4):c.3976+15G>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2822316	NM_000213.5(ITGB4):c.3976+17G>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421955	NM_000213.5(ITGB4):c.3977-30_3977-17del	GALK1, ITGB4	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3032513	NM_000213.5(ITGB4):c.3977-24C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	ITGB4-related disorder	GLikely benign
Select item 14739	NM_000213.5(ITGB4):c.3977-19T>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2840948	NM_000213.5(ITGB4):c.3977-18C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983792	NM_000213.5(ITGB4):c.3977-14C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786313	NM_000213.5(ITGB4):c.3977-12C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842090	NM_000213.5(ITGB4):c.3977-8C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 892368	NM_000213.5(ITGB4):c.3977-4G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2855123	NM_000213.5(ITGB4):c.3977-2A>G	GALK1, ITGB4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2027657	NM_000213.5(ITGB4):c.3981C>T (p.Pro1327=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965215	NM_000213.5(ITGB4):c.4002C>T (p.Ile1334=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 325188	NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 2175587	NM_000213.5(ITGB4):c.4009G>A (p.Ala1337Thr)	GALK1, ITGB4 (A1337T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2704195	NM_000213.5(ITGB4):c.4011C>G (p.Ala1337=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816304	NM_000213.5(ITGB4):c.4012C>T (p.Gln1338Ter)	GALK1, ITGB4 (Q1338*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 931093	NM_000213.5(ITGB4):c.4014G>C (p.Gln1338His)	GALK1, ITGB4 (Q1338H)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 1C, localized	GUncertain significance
Select item 2892648	NM_000213.5(ITGB4):c.4017C>T (p.Ser1339=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1439340	NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	GALK1, ITGB4 (G1340R)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1990120	NM_000213.5(ITGB4):c.4023G>A (p.Glu1341=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099830	NM_000213.5(ITGB4):c.4029C>T (p.Tyr1343=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2239001	NM_000213.5(ITGB4):c.4030G>A (p.Asp1344Asn)	GALK1, ITGB4 (D1344N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2880566	NM_000213.5(ITGB4):c.4050C>T (p.Ser1350=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1037554	NM_000213.5(ITGB4):c.4051G>A (p.Asp1351Asn)	GALK1, ITGB4 (D1351N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2970396	NM_000213.5(ITGB4):c.4056C>T (p.Asp1352=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700290	NM_000213.5(ITGB4):c.4062A>T (p.Leu1354=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 892369	NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His)	GALK1, ITGB4 (R1355H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 892370	NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe)	GALK1, ITGB4 (S1356F)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 2998732	NM_000213.5(ITGB4):c.4071A>G (p.Pro1357=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2592329	NM_000213.5(ITGB4):c.4073C>T (p.Ser1358Leu)	GALK1, ITGB4 (S1358L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2974844	NM_000213.5(ITGB4):c.4086G>A (p.Arg1362=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731131	NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile)	GALK1, ITGB4 (V1365I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3009068	NM_000213.5(ITGB4):c.4098C>T (p.Ser1366=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810159	NM_000213.5(ITGB4):c.4101T>C (p.Asp1367=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 325189	NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu)	GALK1, ITGB4 (D1367E)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 2846536	NM_000213.5(ITGB4):c.4104C>T (p.Asp1368=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803958	NM_000213.5(ITGB4):c.4108+9A>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983263	NM_000213.5(ITGB4):c.4108+20C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179451	NM_000213.5(ITGB4):c.4109-265T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261785	NM_000213.5(ITGB4):c.4109-248G>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231436	NM_000213.5(ITGB4):c.4109-216T>C	ITGB4, GALK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250515	NM_000213.5(ITGB4):c.4109-183G>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203625	NM_000213.5(ITGB4):c.4109-35C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634461	NM_000213.5(ITGB4):c.4249C>T (p.Pro1417Ser)	GALK1, ITGB4 (P1417S)	Single nucleotide variant (missense variant +1 more)	ITGB4-related disorder	GUncertain significance
Select item 591269	NM_000213.5(ITGB4):c.4256_4276dup (p.Asp1419_Lys1425dup)	ITGB4, GALK1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2635760	NM_000213.5(ITGB4):c.4305del (p.Gly1439fs)	GALK1, ITGB4 (G1439fs)	Deletion (frameshift variant +1 more)	ITGB4-related disorder	GLikely pathogenic
Select item 2785278	NM_000213.5(ITGB4):c.4319-18C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127171	NM_000213.5(ITGB4):c.4319-12C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965536	NM_000213.5(ITGB4):c.4319-11T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966259	NM_000213.5(ITGB4):c.4319-9_4319-8insGA	GALK1, ITGB4	Insertion (intron variant)	not provided	GLikely benign
Select item 2799685	NM_000213.5(ITGB4):c.4319-7C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185899	NM_000213.5(ITGB4):c.4319-7C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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