SMAP1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 150999	GRCh38/hg38 6q13(chr6:70252200-70891985)x3	B3GAT2, LOC129996693 +19 more	Copy number gain	See cases	GLikely benign
Select item 153537	GRCh38/hg38 6q13(chr6:70252257-70855775)x3	COL9A1, FAM135A +17 more	Copy number gain	See cases	GUncertain significance
Select item 3320665	NM_001044305.3(SMAP1):c.80A>C (p.Glu27Ala)	SMAP1 (E27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320667	NM_001044305.3(SMAP1):c.289C>T (p.Leu97Phe)	SMAP1 (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387778	NM_001044305.3(SMAP1):c.302A>G (p.Asn101Ser)	SMAP1 (N101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320666	NM_001044305.3(SMAP1):c.363T>G (p.Asp121Glu)	SMAP1 (D121E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609725	NM_001044305.3(SMAP1):c.403G>A (p.Ala135Thr)	SMAP1 (A125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320662	NM_001044305.3(SMAP1):c.424T>C (p.Ser142Pro)	SMAP1 (S142P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154226	GRCh38/hg38 6q13(chr6:70794142-71972780)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3166263	NM_001044305.3(SMAP1):c.506A>G (p.Glu169Gly)	SMAP1 (E142G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320661	NM_001044305.3(SMAP1):c.551C>T (p.Pro184Leu)	SMAP1 (P174L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146273	GRCh38/hg38 6q13(chr6:70809191-71941709)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3320663	NM_001044305.3(SMAP1):c.599T>C (p.Leu200Pro)	SMAP1 (L200P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297961	NM_001044305.3(SMAP1):c.635C>T (p.Ala212Val)	SMAP1 (A185V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2656690	NM_001044305.3(SMAP1):c.720C>T (p.Asn240=)	SMAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461662	NM_001044305.3(SMAP1):c.847G>T (p.Asp283Tyr)	B3GAT2, SMAP1 (D283Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3320668	NM_001044305.3(SMAP1):c.962G>A (p.Gly321Asp)	B3GAT2, SMAP1 (G321D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166264	NM_001044305.3(SMAP1):c.980C>G (p.Thr327Arg)	B3GAT2, SMAP1 (T300R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378210	NM_001044305.3(SMAP1):c.986T>C (p.Ile329Thr)	B3GAT2, SMAP1 (I319T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523421	NM_001044305.3(SMAP1):c.1030T>C (p.Ser344Pro)	B3GAT2, SMAP1 (S334P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335837	NM_001044305.3(SMAP1):c.1064T>C (p.Leu355Pro)	B3GAT2, SMAP1 (L345P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243127	NM_001044305.3(SMAP1):c.1087A>G (p.Ser363Gly)	B3GAT2, SMAP1 (S353G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166261	NM_001044305.3(SMAP1):c.1171G>A (p.Val391Ile)	B3GAT2, SMAP1 (V364I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514834	NM_001044305.3(SMAP1):c.1171G>C (p.Val391Leu)	B3GAT2, SMAP1 (V364L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306763	NM_001044305.3(SMAP1):c.1175T>C (p.Val392Ala)	B3GAT2, SMAP1 (V365A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334175	NM_001044305.3(SMAP1):c.1226T>C (p.Phe409Ser)	B3GAT2, SMAP1 (F382S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374667	NM_001044305.3(SMAP1):c.1270A>G (p.Met424Val)	B3GAT2, SMAP1 (D426G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2384073	NM_001044305.3(SMAP1):c.1312C>A (p.Pro438Thr)	B3GAT2, SMAP1 (P411T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515180	NM_001044305.3(SMAP1):c.1316C>T (p.Thr439Ile)	B3GAT2, SMAP1 (T439I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311795	NM_080742.3(B3GAT2):c.943C>T (p.His315Tyr)	B3GAT2, SMAP1 (H315Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299672	NM_080742.3(B3GAT2):c.939G>C (p.Lys313Asn)	B3GAT2, SMAP1 (K313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266713	NM_080742.3(B3GAT2):c.937A>C (p.Lys313Gln)	B3GAT2, SMAP1 (K313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258723	NM_080742.3(B3GAT2):c.754C>G (p.Gln252Glu)	B3GAT2, SMAP1 (Q252E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807976	GRCh37/hg19 6q13(chr6:70320224-71568417)x3	COL19A1, COL9A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527251	GRCh37/hg19 6q13(chr6:71425270-71517842)	SMAP1	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980207	GRCh37/hg19 6q13(chr6:71351541-72837211)x1	B3GAT2, OGFRL1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563191	GRCh37/hg19 6q13(chr6:71571478-72048250)x3	OGFRL1, SMAP1 +1 more	Copy number gain	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
Select item 441663	GRCh37/hg19 6q13(chr6:70716539-71620525)x3	B3GAT2, COL19A1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 49