"Ambry Genetics"[submitter] AND "IQCH-AS1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340877	NM_001031715.3(IQCH):c.2183C>T (p.Thr728Met)	IQCH, IQCH-AS1 (T400M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373851	NM_001031715.3(IQCH):c.2224G>A (p.Val742Met)	IQCH, IQCH-AS1 (V335M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596479	NM_001031715.3(IQCH):c.2260A>C (p.Asn754His)	IQCH, IQCH-AS1 (N411H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110469	NM_001031715.3(IQCH):c.2291A>G (p.Asn764Ser)	IQCH, IQCH-AS1 (N436S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2351415	NM_001031715.3(IQCH):c.2293G>A (p.Gly765Arg)	IQCH, IQCH-AS1 (G426R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347315	NM_001031715.3(IQCH):c.2305G>A (p.Val769Met)	IQCH, IQCH-AS1 (V426M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110470	NM_001031715.3(IQCH):c.2340C>A (p.Ser780Arg)	IQCH, IQCH-AS1 (S452R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110471	NM_001031715.3(IQCH):c.2393T>G (p.Val798Gly)	IQCH, IQCH-AS1 (V459G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2602193	NM_001031715.3(IQCH):c.2426C>G (p.Ala809Gly)	IQCH, IQCH-AS1 (A466G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610403	NM_001031715.3(IQCH):c.2456T>G (p.Phe819Cys)	IQCH, IQCH-AS1 (F480C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291120	NM_001031715.3(IQCH):c.2467C>G (p.Leu823Val)	IQCH, IQCH-AS1 (L495V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110472	NM_001031715.3(IQCH):c.2620C>T (p.Arg874Cys)	IQCH, IQCH-AS1 (R467C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267203	NM_001031715.3(IQCH):c.2660G>A (p.Ser887Asn)	IQCH, IQCH-AS1 (S548N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2377643	NM_001031715.3(IQCH):c.2679G>A (p.Met893Ile)	IQCH, IQCH-AS1 (M629I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410071	NM_001031715.3(IQCH):c.2693G>A (p.Arg898His)	IQCH, IQCH-AS1 (R555H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412104	NM_001031715.3(IQCH):c.2720G>A (p.Arg907Lys)	IQCH, IQCH-AS1 (R643K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2367677	NM_001031715.3(IQCH):c.2727C>G (p.Ser909Arg)	IQCH, IQCH-AS1 (S570R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374558	NM_001031715.3(IQCH):c.2835C>A (p.His945Gln)	IQCH, IQCH-AS1 (H497Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261904	NM_001031715.3(IQCH):c.3065T>C (p.Leu1022Pro)	IQCH, IQCH-AS1 (L1022P +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235524	NM_001143936.2(C15orf61):c.5A>C (p.Glu2Ala)	C15orf61, IQCH-AS1 +1 more (E2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208029	NM_001143936.2(C15orf61):c.144G>T (p.Trp48Cys)	C15orf61, IQCH-AS1 (W48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208030	NM_001143936.2(C15orf61):c.146C>T (p.Thr49Ile)	C15orf61, IQCH-AS1 (T49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22