GARIN6[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 3098529	NM_153364.4(GARIN6):c.32C>T (p.Thr11Met)	ANKS1B, GARIN6 (T11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098532	NM_153364.4(GARIN6):c.44G>A (p.Ser15Asn)	ANKS1B, GARIN6 (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098525	NM_153364.4(GARIN6):c.103G>A (p.Gly35Ser)	ANKS1B, GARIN6 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280746	NM_153364.4(GARIN6):c.134T>C (p.Met45Thr)	ANKS1B, GARIN6 (M45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098526	NM_153364.4(GARIN6):c.179T>C (p.Ile60Thr)	ANKS1B, GARIN6 (I60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463386	NM_153364.4(GARIN6):c.183C>A (p.Asp61Glu)	ANKS1B, GARIN6 (D61E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643228	NM_001352186.2(ANKS1B):c.1272+6673C>T	ANKS1B, GARIN6 (V74I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2615454	NM_153364.4(GARIN6):c.229A>T (p.Ser77Cys)	ANKS1B, GARIN6 (S77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098527	NM_153364.4(GARIN6):c.269G>A (p.Arg90Gln)	ANKS1B, GARIN6 (R90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098528	NM_153364.4(GARIN6):c.280G>A (p.Val94Ile)	ANKS1B, GARIN6 (V94I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098530	NM_153364.4(GARIN6):c.380A>G (p.Lys127Arg)	ANKS1B, GARIN6 (K127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098531	NM_153364.4(GARIN6):c.437G>A (p.Arg146His)	ANKS1B, GARIN6 (R146H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605673	NM_153364.4(GARIN6):c.488T>C (p.Phe163Ser)	ANKS1B, GARIN6 (F163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280749	NM_153364.4(GARIN6):c.552G>T (p.Arg184Ser)	ANKS1B, GARIN6 (R184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098533	NM_153364.4(GARIN6):c.575T>C (p.Leu192Ser)	ANKS1B, GARIN6 (L192S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098534	NM_153364.4(GARIN6):c.613G>A (p.Val205Met)	ANKS1B, GARIN6 (V205M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098535	NM_153364.4(GARIN6):c.646G>A (p.Glu216Lys)	ANKS1B, GARIN6 (E216K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495078	NM_153364.4(GARIN6):c.661A>C (p.Ser221Arg)	ANKS1B, GARIN6 (S221R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510198	NM_153364.4(GARIN6):c.674T>A (p.Met225Lys)	ANKS1B, GARIN6 (M225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244443	NC_000012.11:g.(?_100041953)_(100219167_?)del	ANKS1B, GARIN6	Deletion	not provided	GPathogenic
Select item 2685451	GRCh37/hg19 12q23.1(chr12:100042163-100138854)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 2685450	GRCh37/hg19 12q23.1(chr12:100015771-100107913)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 2685449	GRCh37/hg19 12q23.1(chr12:99880464-100235578)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 2685448	GRCh37/hg19 12q23.1(chr12:99866634-100134218)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 1808855	GRCh37/hg19 12q23.1(chr12:99216132-100122441)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 815546	GRCh37/hg19 12q23.1(chr12:99955133-100219181)x1	GARIN6, ANKS1B	Copy number loss	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 563969	GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3	ACTR6, ANKS1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 563942	GRCh37/hg19 12q23.1(chr12:99818096-100219181)x1	ANKS1B, GARIN6	Copy number loss	not provided	GUncertain significance
Select item 444855	GRCh37/hg19 12q23.1(chr12:100030698-100141587)x1	ANKS1B, GARIN6	Copy number loss	not provided	GLikely benign
Select item 443394	GRCh37/hg19 12q23.1(chr12:99930346-100245476)x1	ANKS1B, GARIN6	Copy number loss	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394784	GRCh37/hg19 12q23.1(chr12:99701065-100103905)x1	ANKS1B, GARIN6	Copy number loss	See cases	Gconflicting data from submitters
Select item 394746	GRCh37/hg19 12q23.1(chr12:100039833-100043794)x1	ANKS1B, GARIN6	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 39