21601[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 153684	GRCh38/hg38 6p24.3(chr6:8178309-8910184)x1	HULC, LOC100506207 +27 more	Copy number loss	See cases	GUncertain significance
Select item 2458978	NM_001370479.2(SLC35B3):c.1075G>A (p.Ala359Thr)	SLC35B3 (A391T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372125	NM_001370479.2(SLC35B3):c.1070T>C (p.Val357Ala)	SLC35B3 (V357A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313171	NM_001370479.2(SLC35B3):c.1043C>T (p.Ser348Leu)	SLC35B3 (S380L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319572	NM_001370479.2(SLC35B3):c.978G>T (p.Leu326Phe)	SLC35B3 (L295F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370701	NM_001370479.2(SLC35B3):c.973G>C (p.Gly325Arg)	SLC35B3 (G294R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393409	NM_001370479.2(SLC35B3):c.947C>T (p.Pro316Leu)	SLC35B3 (P285L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319571	NM_001370479.2(SLC35B3):c.869G>A (p.Gly290Asp)	SLC35B3 (G322D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206811	NM_001370479.2(SLC35B3):c.775A>G (p.Lys259Glu)	SLC35B3 (K291E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509486	NM_001370479.2(SLC35B3):c.695C>T (p.Ser232Leu)	SLC35B3 (S232L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164344	NM_001370479.2(SLC35B3):c.655A>G (p.Lys219Glu)	SLC35B3 (K251E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402591	NM_001370479.2(SLC35B3):c.625G>A (p.Val209Ile)	SLC35B3 (V241I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398477	NM_001370479.2(SLC35B3):c.602C>T (p.Ser201Phe)	SLC35B3 (S201F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164343	NM_001370479.2(SLC35B3):c.554A>C (p.Asp185Ala)	SLC35B3 (D217A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286897	NM_001370479.2(SLC35B3):c.520A>G (p.Met174Val)	SLC35B3 (M206V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341691	NM_001370479.2(SLC35B3):c.514A>G (p.Ile172Val)	SLC35B3 (I172V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2619107	NM_001370479.2(SLC35B3):c.247C>T (p.Leu83Phe)	SLC35B3 (L115F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164342	NM_001370479.2(SLC35B3):c.227T>C (p.Phe76Ser)	SLC35B3 (F76S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164341	NM_001370479.2(SLC35B3):c.217G>T (p.Val73Leu)	SLC35B3 (V73L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364085	NM_001370479.2(SLC35B3):c.143A>G (p.Gln48Arg)	SLC35B3 (Q80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602151	NM_001370479.2(SLC35B3):c.136C>T (p.Leu46Phe)	SLC35B3 (L46F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458543	NM_001370479.2(SLC35B3):c.97G>A (p.Val33Ile)	SLC35B3 (V33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 814788	GRCh37/hg19 6p24.3(chr6:8286885-10039004)x1	HULC, OFCC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 53