ERVFRD-1[gene] - ClinVar

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Items: 46

	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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	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 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 2286824	NM_207582.3(ERVFRD-1):c.1463G>T (p.Gly488Val)	ERVFRD-1, SMIM13 (G488V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406796	NM_207582.3(ERVFRD-1):c.806T>C (p.Ile269Thr)	ERVFRD-1, SMIM13 (I269T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462961	NM_207582.3(ERVFRD-1):c.785T>C (p.Ile262Thr)	ERVFRD-1, SMIM13 (I262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090383	NM_207582.3(ERVFRD-1):c.770T>C (p.Leu257Ser)	ERVFRD-1, SMIM13 (L257S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303169	NM_207582.3(ERVFRD-1):c.701G>A (p.Arg234Gln)	ERVFRD-1, SMIM13 (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475456	NM_207582.3(ERVFRD-1):c.674C>T (p.Ala225Val)	ERVFRD-1, SMIM13 (A225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245116	NM_207582.3(ERVFRD-1):c.629C>G (p.Ala210Gly)	ERVFRD-1, SMIM13 (A210G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276425	NM_207582.3(ERVFRD-1):c.620T>C (p.Phe207Ser)	ERVFRD-1, SMIM13 (F207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276426	NM_207582.3(ERVFRD-1):c.596C>T (p.Ser199Leu)	ERVFRD-1, SMIM13 (S199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090382	NM_207582.3(ERVFRD-1):c.571C>T (p.Arg191Trp)	ERVFRD-1, SMIM13 (R191W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388330	NM_207582.3(ERVFRD-1):c.554T>G (p.Leu185Trp)	ERVFRD-1, SMIM13 (L185W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257666	NM_207582.3(ERVFRD-1):c.523C>T (p.Pro175Ser)	ERVFRD-1, SMIM13 (P175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090381	NM_207582.3(ERVFRD-1):c.401G>T (p.Gly134Val)	ERVFRD-1, SMIM13 (G134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558598	NM_207582.3(ERVFRD-1):c.374T>C (p.Ile125Thr)	ERVFRD-1, SMIM13 (I125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367924	NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser)	ERVFRD-1, SMIM13 (N116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090380	NM_207582.3(ERVFRD-1):c.310C>T (p.Arg104Cys)	ERVFRD-1, SMIM13 (R104C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342393	NM_207582.3(ERVFRD-1):c.232T>G (p.Trp78Gly)	ERVFRD-1, SMIM13 (W78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090379	NM_207582.3(ERVFRD-1):c.209C>T (p.Ala70Val)	ERVFRD-1, SMIM13 (A70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621357	NM_207582.3(ERVFRD-1):c.182C>T (p.Ser61Leu)	ERVFRD-1, SMIM13 (S61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222539	NM_207582.3(ERVFRD-1):c.53G>A (p.Arg18His)	ERVFRD-1, SMIM13 (R18H)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
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 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: 46