LOC130058566[gene] - ClinVar

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Items: 81

	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 +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)	MIR484, MIR6506 +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 148842	GRCh38/hg38 16p12.3(chr16:17169800-17966460)x3	LOC126862302, LOC126862303 +20 more	Copy number gain	See cases	GLikely benign
Select item 150230	GRCh38/hg38 16p12.3(chr16:17228304-17601077)x1	LOC126862302, LOC126862303 +14 more	Copy number loss	See cases	GUncertain significance
Select item 3237504	NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer)	LOC130058566, XYLT1	Deletion (nonsense)	Desbuquois dysplasia 2	GLikely pathogenic
Select item 2275457	NM_022166.4(XYLT1):c.571G>A (p.Glu191Lys)	LOC130058566, XYLT1 (E191K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074185	NM_022166.4(XYLT1):c.570G>A (p.Lys190=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2050929	NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)	LOC130058566, XYLT1 (Q189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1896272	NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)	LOC130058566, XYLT1 (S187N)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1461695	NM_022166.4(XYLT1):c.558G>A (p.Pro186=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2012713	NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)	LOC130058566, XYLT1 (P185A)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1528847	NM_022166.4(XYLT1):c.546G>A (p.Ala182=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1597163	NM_022166.4(XYLT1):c.541T>C (p.Leu181=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2892350	NM_022166.4(XYLT1):c.537T>C (p.Pro179=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1396286	NM_022166.4(XYLT1):c.534G>T (p.Gln178His)	LOC130058566, XYLT1 (Q178H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3333599	NM_022166.4(XYLT1):c.533A>T (p.Gln178Leu)	LOC130058566, XYLT1 (Q178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202572	NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)	LOC130058566, XYLT1 (Q173E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066453	NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)	LOC130058566, XYLT1 (T172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1519703	NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser)	LOC130058566, XYLT1 (P170S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1944105	NM_022166.4(XYLT1):c.504C>T (p.Phe168=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1345629	NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln)	LOC130058566, XYLT1 (R147Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 127236	NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)	XYLT1, LOC130058566 (R147*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 1	GPathogenic
Select item 1036214	NM_022166.4(XYLT1):c.436G>A (p.Val146Met)	LOC130058566, XYLT1 (V146M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 847360	NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr)	XYLT1, LOC130058566 (K145T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 731679	NM_022166.4(XYLT1):c.426G>A (p.Pro142=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394442	NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)	LOC130058566, XYLT1 (P142L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 2106529	NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)	LOC130058566, XYLT1 (R141Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 373449	NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)	LOC130058566, XYLT1 (R141W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 860901	NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe)	LOC130058566, XYLT1 (S139F)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 999765	NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu)	LOC130058566, XYLT1 (F138L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2166418	NM_022166.4(XYLT1):c.403-18C>T	LOC130058566, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign

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Items: 81