LOC102723692[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	LOC126862302, LOC126862303 +95 more	Copy number gain	See cases	GUncertain significance
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 57168	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 57661	GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3	ABCC1, ABCC6 +74 more	Copy number gain	See cases	GUncertain significance
Select item 147644	GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3	ABCC1, ABCC6 +83 more	Copy number gain	See cases	GPathogenic
Select item 59270	GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3	ABCC1, ABCC6 +73 more	Copy number gain	See cases	GUncertain significance
Select item 545189	Single allele	LOC125146419, LOC126862299 +83 more	Duplication	Schizophrenia	GPathogenic
Select item 151962	GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3	ABCC1, ABCC6 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57368	GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1	ABCC1, ABCC6 +79 more	Copy number loss	See cases	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 150157	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3	ABCC1, ABCC6 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151990	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 149549	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148632	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3	ABCC1, ABCC6 +78 more	Copy number gain	See cases	GUncertain significance
Select item 33873	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 33471	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3	LOC126862305, LOC129390771 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148941	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 148514	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3	MIR3670-2, MIR3670-3 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148417	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148261	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153938	GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155098	GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155349	GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3	LOC112340379, LOC112340380 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148377	GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 545190	Single allele	MPV17L-BMERB1, NPIPA7 +66 more	Duplication	Schizophrenia	GPathogenic
Select item 59273	GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3	MIR3180-2, MIR3670-2 +66 more	Copy number gain	See cases	GUncertain significance
Select item 160987	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146180	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1	ABCC1, ABCC6 +66 more	Copy number loss	See cases	GPathogenic
Select item 59274	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 34854	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153194	GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155137	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 150853	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic
Select item 149110	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GLikely pathogenic
Select item 59277	GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3	ABCC1, ABCC6 +65 more	Copy number gain	See cases	GUncertain significance
Select item 58731	GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 58730	GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3	ABCC1, ABCC6 +64 more	Copy number gain	See cases	GUncertain significance
Select item 149876	GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 161075	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3	ABCC1, ABCC6 +64 more	Copy number gain	See cases	GUncertain significance
Select item 154462	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 57438	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3	MIR6511A4, MIR6770-2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 58733	GRCh38/hg38 16p13.11-12.3(chr16:16450841-18203371)x1	LOC126862301, LOC102723692 +29 more	Copy number loss	See cases	GPathogenic
Select item 148258	GRCh38/hg38 16p13.11-12.3(chr16:16541781-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance
Select item 149137	GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance
Select item 147393	GRCh38/hg38 16p12.3(chr16:16861505-17368530)x3	LOC102723692, LOC111365165 +13 more	Copy number gain	See cases	GUncertain significance
Select item 541800	NC_000016.10:g.(?_17108675)_(17470816_?)del	LOC102723692, LOC126862302 +15 more	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 1564241	NM_022166.4(XYLT1):c.1995G>A (p.Thr665=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1170431	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	LOC102723692, XYLT1 (T665M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 2412085	NM_022166.4(XYLT1):c.1992G>C (p.Glu664Asp)	LOC102723692, XYLT1 (E664D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 662990	NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)	LOC102723692, XYLT1 (E664K)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1168621	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 2267318	NM_022166.4(XYLT1):c.1987G>A (p.Ala663Thr)	LOC102723692, XYLT1 (A663T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2819463	NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)	LOC102723692, XYLT1 (R662L)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1374204	NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln)	LOC102723692, XYLT1 (R662Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529330	NM_022166.4(XYLT1):c.1984C>T (p.Arg662Trp)	LOC102723692, XYLT1 (R662W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 652797	NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)	LOC102723692, XYLT1 (R661Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1026953	NM_022166.4(XYLT1):c.1970G>A (p.Arg657His)	LOC102723692, XYLT1 (R657H)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2209717	NM_022166.4(XYLT1):c.1969C>T (p.Arg657Cys)	LOC102723692, XYLT1 (R657C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1080942	NM_022166.4(XYLT1):c.1953G>A (p.Leu651=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1911724	NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)	LOC102723692, XYLT1 (L651W)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1035106	NM_022166.4(XYLT1):c.1939G>A (p.Val647Met)	LOC102723692, XYLT1 (V647M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1111558	NM_022166.4(XYLT1):c.1938C>T (p.Asp646=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1056276	NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn)	XYLT1, LOC102723692 (D646N)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1167492	NM_022166.4(XYLT1):c.1935C>T (p.Ser645=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 1374006	NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)	LOC102723692, XYLT1 (L644M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 784680	NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser)	LOC102723692, XYLT1 (G640S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GBenign
Select item 1581114	NM_022166.4(XYLT1):c.1917C>T (p.Asp639=)	XYLT1, LOC102723692	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2683348	NM_022166.4(XYLT1):c.1906G>A (p.Asp636Asn)	LOC102723692, XYLT1 (D636N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099682	NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	XYLT1-related disorder +1 more	GLikely benign
Select item 2041798	NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)	LOC102723692, XYLT1 (R628H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1082838	NM_022166.4(XYLT1):c.1875G>A (p.Pro625=)	XYLT1, LOC102723692	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1166069	NM_022166.4(XYLT1):c.1854G>T (p.Gly618=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 2061485	NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)	LOC102723692, XYLT1 (G618R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1577454	NM_022166.4(XYLT1):c.1848G>C (p.Leu616=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 1603100	NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys)	LOC102723692, XYLT1 (Y614C)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1428576	NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr)	LOC102723692, XYLT1 (I609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 650727	NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)	LOC102723692, XYLT1 (N605Y)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 1358513	NM_022166.4(XYLT1):c.1807G>A (p.Val603Met)	XYLT1, LOC102723692 (V603M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2901641	NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1979309	NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)	LOC102723692, XYLT1 (R598H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 127235	NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)	LOC102723692, XYLT1 (R598C)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 499050	NM_022166.4(XYLT1):c.1765-3C>T	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2006985	NM_022166.4(XYLT1):c.1765-8G>A	XYLT1, LOC102723692	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2114833	NM_022166.4(XYLT1):c.1765-14T>A	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2042163	NM_022166.4(XYLT1):c.1765-15A>C	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1282842	NM_022166.4(XYLT1):c.1765-215_1765-212dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1249272	NM_022166.4(XYLT1):c.1764+307_1764+308insTCT	LOC102723692, XYLT1	Insertion (intron variant)	not provided	GBenign
Select item 1288230	NM_022166.4(XYLT1):c.1764+175_1764+191dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1280010	NM_022166.4(XYLT1):c.1764+125_1764+128del	LOC102723692, XYLT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1649609	NM_022166.4(XYLT1):c.1764+19C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2777029	NM_022166.4(XYLT1):c.1764+13C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2884790	NM_022166.4(XYLT1):c.1764+9_1764+10dup	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1583472	NM_022166.4(XYLT1):c.1764+11C>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1407697	NM_022166.4(XYLT1):c.1764+4A>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance

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