64131[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619182	NW_019805500.1:g.472169CCG[(100-833)]	XYLT1	Microsatellite	Desbuquois dysplasia 2	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 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	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	MIR3670-1, MIR3670-2 +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	LOC125146428, LOC125146429 +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	ABCC1, ABCC6 +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)	ABCC1, ABCC6 +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	ABCC1, ABCC6 +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	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148417	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3	ABCC6, BMERB1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148261	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3	LOC130058568, LOC130058569 +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	ABCC1, ABCC6 +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	LOC130058577, LOC130058579 +66 more	Duplication	Schizophrenia	GPathogenic
Select item 59273	GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3	ABCC1, ABCC6 +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	MIR3180-3, MIR3670-2 +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	LOC126862300, LOC126862301 +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	ABCC1, ABCC6 +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	LOC130058567, LOC130058569 +15 more	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 2135168	NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)	XYLT1	Single nucleotide variant (stop lost)	Desbuquois dysplasia 1	GUncertain significance
Select item 1421373	NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln)	XYLT1 (R957Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2059108	NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)	XYLT1 (R957W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1107654	NM_022166.4(XYLT1):c.2865T>C (p.Asp955=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2870101	NM_022166.4(XYLT1):c.2856C>T (p.Val952=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2301875	NM_022166.4(XYLT1):c.2837A>C (p.Lys946Thr)	XYLT1 (K946T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084140	NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)	XYLT1 (P943S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1008667	NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr)	XYLT1 (A937T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2199979	NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1301770	NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)	XYLT1 (T936M)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GUncertain significance
Select item 1008226	NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser)	XYLT1 (T936S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1458293	NM_022166.4(XYLT1):c.2784G>A (p.Pro928=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1395380	NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu)	XYLT1 (P928L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2053799	NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)	XYLT1 (G923D)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1161702	NM_022166.4(XYLT1):c.2766G>C (p.Thr922=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1034437	NM_022166.4(XYLT1):c.2766G>A (p.Thr922=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2465608	NM_022166.4(XYLT1):c.2765C>T (p.Thr922Met)	XYLT1 (T922M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2726229	NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)	XYLT1 (M913I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2800111	NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2049115	NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)	XYLT1 (L909del)	Deletion (inframe_deletion)	Desbuquois dysplasia 1	GUncertain significance
Select item 2194209	NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1159827	NM_022166.4(XYLT1):c.2694G>A (p.Thr898=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1396853	NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met)	XYLT1 (T898M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1490417	NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe)	XYLT1 (S897F)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2182838	NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1168620	NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)	XYLT1 (R892Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 2177099	NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)	XYLT1 (R892W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1424246	NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg)	XYLT1 (Q890R)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1469251	NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln)	XYLT1 (E889Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 779626	NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser)	XYLT1 (A886S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 684362	NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 1945722	NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2502637	NM_022166.4(XYLT1):c.2639G>A (p.Ser880Asn)	XYLT1 (S880N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046046	NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)	XYLT1 (S880T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2194534	NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)	XYLT1 (V878I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1167692	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1481544	NM_022166.4(XYLT1):c.2619G>C (p.Gln873His)	XYLT1 (Q873H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2880894	NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2799887	NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2414992	NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)	XYLT1 (L856M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1117432	NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)	XYLT1 (E854A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1407331	NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys)	XYLT1 (E854K)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 521275	NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter)	XYLT1 (E854*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2420610	NM_022166.4(XYLT1):c.2558-6T>C	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1626561	NM_022166.4(XYLT1):c.2558-18G>A	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1282182	NM_022166.4(XYLT1):c.2558-90A>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221311	NM_022166.4(XYLT1):c.2558-91C>T	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign

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