ClinVar for Gene (Select 113174) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157454	NM_138421.3(SAAL1):c.709T>C (p.Ser237Pro)	SAAL1 (S237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157453	NM_138421.3(SAAL1):c.664G>T (p.Val222Phe)	SAAL1 (V222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157452	NM_138421.3(SAAL1):c.316A>G (p.Lys106Glu)	SAAL1 (K106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157451	NM_138421.3(SAAL1):c.1181A>G (p.Lys394Arg)	SAAL1 (K394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606889	NM_138421.3(SAAL1):c.607G>T (p.Val203Leu)	SAAL1 (V203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543502	NM_138421.3(SAAL1):c.1148G>A (p.Arg383Lys)	SAAL1 (R383K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536808	NM_138421.3(SAAL1):c.1324A>G (p.Ser442Gly)	SAAL1 (S442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487579	NM_138421.3(SAAL1):c.761A>G (p.Lys254Arg)	SAAL1 (K254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405059	NM_138421.3(SAAL1):c.566T>C (p.Phe189Ser)	SAAL1 (F189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402973	NM_138421.3(SAAL1):c.745A>G (p.Ile249Val)	SAAL1 (I249V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392810	NM_138421.3(SAAL1):c.138T>G (p.Ile46Met)	SAAL1 (I46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391379	NM_138421.3(SAAL1):c.112G>A (p.Gly38Ser)	LOC130005398, SAAL1 (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350107	NM_138421.3(SAAL1):c.371T>G (p.Phe124Cys)	SAAL1 (F124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314177	NM_138421.3(SAAL1):c.964G>C (p.Val322Leu)	SAAL1 (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304824	NM_138421.3(SAAL1):c.34C>G (p.Arg12Gly)	LOC130005398, SAAL1 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283439	NM_138421.3(SAAL1):c.144C>G (p.Ser48Arg)	SAAL1 (S48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261287	NM_138421.3(SAAL1):c.197A>T (p.Asp66Val)	SAAL1 (D66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243888	NM_138421.3(SAAL1):c.1195A>G (p.Ile399Val)	SAAL1 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527628	GRCh37/hg19 11p15.1(chr11:16820813-18103432)	ABCC8, KCNC1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	TSG101, UEVLD +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 688895	GRCh37/hg19 11p15.1(chr11:18084181-18154527)x1	MRGPRX3, SAAL1	Copy number loss	not provided	GUncertain significance
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 424640	GRCh37/hg19 11p15.1(chr11:17899742-18258290)x3	SAA2-SAA4, SAA4 +6 more	Copy number gain	not specified	GLikely benign
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37