SERINC1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 3317520	NM_020755.4(SERINC1):c.1270T>G (p.Trp424Gly)	SERINC1 (W424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160244	NM_020755.4(SERINC1):c.1240C>A (p.Arg414Ser)	SERINC1 (R414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356543	NM_020755.4(SERINC1):c.1217A>G (p.Asn406Ser)	SERINC1 (N406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207476	NM_020755.4(SERINC1):c.1208C>T (p.Thr403Ile)	SERINC1 (T403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317524	NM_020755.4(SERINC1):c.1107C>T (p.Asp369=)	SERINC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2226078	NM_020755.4(SERINC1):c.1075G>A (p.Ala359Thr)	SERINC1 (A359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656893	NM_020755.4(SERINC1):c.996C>T (p.Ser332=)	SERINC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321343	NM_020755.4(SERINC1):c.977T>G (p.Leu326Trp)	SERINC1 (L326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343165	NM_020755.4(SERINC1):c.946C>A (p.Gln316Lys)	SERINC1 (Q316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519046	NM_020755.4(SERINC1):c.915G>C (p.Lys305Asn)	SERINC1 (K305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656894	NM_020755.4(SERINC1):c.760-11_760-5dup	SERINC1	Duplication (intron variant)	not provided	GLikely benign
Select item 2366397	NM_020755.4(SERINC1):c.656A>C (p.Tyr219Ser)	SERINC1 (Y219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525167	NM_020755.4(SERINC1):c.640G>A (p.Val214Ile)	SERINC1 (V214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656895	NM_020755.4(SERINC1):c.589+3A>G	SERINC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2403195	NM_020755.4(SERINC1):c.456G>C (p.Trp152Cys)	SERINC1 (W152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160245	NM_020755.4(SERINC1):c.275G>A (p.Arg92His)	SERINC1 (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346829	NM_020755.4(SERINC1):c.257G>T (p.Gly86Val)	SERINC1 (G86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317523	NM_020755.4(SERINC1):c.158C>T (p.Ala53Val)	SERINC1 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341160	NM_020755.4(SERINC1):c.154G>A (p.Val52Ile)	SERINC1 (V52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160246	NM_020755.4(SERINC1):c.86G>A (p.Cys29Tyr)	SERINC1 (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554421	NM_020755.4(SERINC1):c.74T>C (p.Leu25Pro)	SERINC1 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487107	NM_020755.4(SERINC1):c.62C>T (p.Ala21Val)	SERINC1 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317521	NM_020755.4(SERINC1):c.14T>C (p.Leu5Pro)	LOC129997092, SERINC1 (L5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 980779	GRCh37/hg19 6q22.31(chr6:122792607-122856366)x1	PKIB, SERINC1	Copy number loss	not provided	GLikely benign
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 47