SCGN[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 3158418	NM_006998.4(SCGN):c.8G>A (p.Ser3Asn)	SCGN (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158415	NM_006998.4(SCGN):c.50T>G (p.Phe17Cys)	SCGN (F17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714310	NM_006998.4(SCGN):c.83-1del	SCGN	Deletion (splice acceptor variant)	not provided	GBenign
Select item 2520630	NM_006998.4(SCGN):c.89G>A (p.Gly30Asp)	SCGN (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158419	NM_006998.4(SCGN):c.95T>C (p.Ile32Thr)	SCGN (I32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285598	NM_006998.4(SCGN):c.103A>G (p.Lys35Glu)	SCGN (K35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391002	NM_006998.4(SCGN):c.191A>G (p.Gln64Arg)	SCGN (Q64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282192	NM_006998.4(SCGN):c.232A>T (p.Ile78Phe)	SCGN (I78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258252	NM_006998.4(SCGN):c.322G>A (p.Val108Met)	SCGN (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158414	NM_006998.4(SCGN):c.344G>T (p.Arg115Leu)	SCGN (R115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024824	NM_006998.4(SCGN):c.381T>C (p.Ala127=)	SCGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367965	NM_006998.4(SCGN):c.430G>A (p.Ala144Thr)	SCGN (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530221	NM_006998.4(SCGN):c.437C>T (p.Ser146Phe)	SCGN (S146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048391	NM_006998.4(SCGN):c.449T>A (p.Leu150Gln)	SCGN (L150Q)	Single nucleotide variant (missense variant)	SCGN-related disorder	GLikely benign
Select item 2273871	NM_006998.4(SCGN):c.502C>T (p.Arg168Trp)	SCGN (R168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158416	NM_006998.4(SCGN):c.514A>G (p.Asn172Asp)	SCGN (N172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158417	NM_006998.4(SCGN):c.709A>G (p.Ile237Val)	SCGN (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542110	NM_006998.4(SCGN):c.758G>A (p.Cys253Tyr)	SCGN (C253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255333	NM_006998.4(SCGN):c.763G>T (p.Val255Leu)	SCGN (V255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547887	NM_006998.4(SCGN):c.823A>G (p.Asn275Asp)	SCGN (N275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684444	GRCh37/hg19 6p22.2(chr6:25283123-25730027)x3	CARMIL1, H2AC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979705	GRCh37/hg19 6p22.2(chr6:25622751-25853825)x1	SLC17A3, H2AC1 +4 more	Copy number loss	not provided	GUncertain significance
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

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Items: 29