SSR1[gene] - ClinVar

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Items: 52

	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 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 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 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2243179	NM_003144.5(SSR1):c.644C>T (p.Ala215Val)	SSR1 (A147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170485	NM_003144.5(SSR1):c.596G>C (p.Arg199Thr)	SSR1 (R131T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588289	NM_003144.5(SSR1):c.332G>A (p.Gly111Asp)	SSR1 (G111D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257543	NM_003144.5(SSR1):c.253A>G (p.Thr85Ala)	SSR1 (T85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170484	NM_003144.5(SSR1):c.172G>A (p.Glu58Lys)	SSR1 (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358241	NM_003144.5(SSR1):c.52A>G (p.Thr18Ala)	SSR1 (T18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263112	NM_003144.5(SSR1):c.37C>G (p.Leu13Val)	SSR1 (L13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684443	GRCh37/hg19 6p25.1-24.3(chr6:7062951-7341722)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684441	GRCh37/hg19 6p25.1-24.3(chr6:7000220-7328510)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
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 1708201	GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3	CAGE1, RIOK1 +2 more	Copy number gain	See cases	GPathogenic
Select item 1340596	GRCh37/hg19 6p25.1-24.3(chr6:6944548-7303665)x3	RREB1, SSR1	Copy number gain	not provided	GUncertain significance
Select item 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979725	GRCh37/hg19 6p25.1-24.3(chr6:6874846-7396438)x3	CAGE1, SSR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814786	GRCh37/hg19 6p25.1-24.3(chr6:6959105-7385153)x3	CAGE1, SSR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814785	GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3	CAGE1, DSP +4 more	Copy number gain	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 688482	GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3	BMP6, CAGE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687988	GRCh37/hg19 6p25.1-24.3(chr6:7033833-7293783)x3	RREB1, SSR1	Copy number gain	not provided	GUncertain significance
Select item 687665	GRCh37/hg19 6p24.3(chr6:7198136-7338171)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687436	GRCh37/hg19 6p24.3(chr6:7184113-7301231)x3	RREB1, SSR1	Copy number gain	not provided	GUncertain significance
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 685950	GRCh37/hg19 6p25.1-24.3(chr6:6864042-7437958)x3	CAGE1, RIOK1 +2 more	Copy number gain	not provided	GUncertain significance
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 563153	GRCh37/hg19 6p25.1-24.3(chr6:6815015-7387789)x3	RREB1, SSR1 +1 more	Copy number gain	not provided	GUncertain significance
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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441632	GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3	BMP6, CAGE1 +5 more	Copy number gain	See cases	GLikely benign
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: 52