ClinVar for Gene (Select 78997) - ClinVar

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

Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281104	NM_024034.6(GDAP1L1):c.171C>G (p.Ser57Arg)	GDAP1L1 (S57R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281102	NM_024034.6(GDAP1L1):c.632A>C (p.Gln211Pro)	GDAP1L1 (Q230P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281101	NM_024034.6(GDAP1L1):c.906T>G (p.Phe302Leu)	GDAP1L1 (F231L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281100	NM_024034.6(GDAP1L1):c.199G>A (p.Glu67Lys)	GDAP1L1 (E67K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281099	NM_024034.6(GDAP1L1):c.610T>G (p.Ser204Ala)	GDAP1L1 (S115A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281098	NM_024034.6(GDAP1L1):c.1013C>A (p.Pro338His)	GDAP1L1 (P280H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3099193	NM_024034.6(GDAP1L1):c.994C>T (p.Arg332Trp)	GDAP1L1 (R274W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099192	NM_024034.6(GDAP1L1):c.959C>T (p.Thr320Ile)	GDAP1L1 (T262I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099191	NM_024034.6(GDAP1L1):c.884G>A (p.Arg295Gln)	GDAP1L1 (R206Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099190	NM_024034.6(GDAP1L1):c.533C>T (p.Thr178Met)	GDAP1L1 (T89M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099189	NM_024034.6(GDAP1L1):c.418G>A (p.Ala140Thr)	GDAP1L1 (A51T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099188	NM_024034.6(GDAP1L1):c.400G>A (p.Val134Met)	GDAP1L1 (V134M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548249	NM_024034.6(GDAP1L1):c.619T>C (p.Tyr207His)	GDAP1L1 (Y118H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545036	NM_024034.6(GDAP1L1):c.907G>A (p.Glu303Lys)	GDAP1L1 (E232K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539622	NM_024034.6(GDAP1L1):c.437G>A (p.Arg146Gln)	GDAP1L1 (R165Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509112	NM_024034.6(GDAP1L1):c.247G>A (p.Glu83Lys)	GDAP1L1 (E83K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491614	NM_024034.6(GDAP1L1):c.226G>T (p.Asp76Tyr)	GDAP1L1 (D76Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476007	NM_024034.6(GDAP1L1):c.106G>A (p.Ala36Thr)	GDAP1L1 (A36T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473081	NM_024034.6(GDAP1L1):c.421C>T (p.Arg141Trp)	GDAP1L1 (R52W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2398316	NM_024034.6(GDAP1L1):c.573C>A (p.Asp191Glu)	GDAP1L1 (D210E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390035	NM_024034.6(GDAP1L1):c.322A>G (p.Ile108Val)	GDAP1L1 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384325	NM_024034.6(GDAP1L1):c.836G>A (p.Arg279His)	GDAP1L1 (R190H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380904	NM_024034.6(GDAP1L1):c.505A>G (p.Thr169Ala)	GDAP1L1 (T188A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370778	NM_024034.6(GDAP1L1):c.272G>A (p.Arg91Gln)	GDAP1L1 (R91Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354575	NM_024034.6(GDAP1L1):c.451G>A (p.Ala151Thr)	GDAP1L1 (A151T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271827	NM_024034.6(GDAP1L1):c.976G>A (p.Val326Ile)	GDAP1L1 (V237I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271585	NM_024034.6(GDAP1L1):c.632A>G (p.Gln211Arg)	GDAP1L1 (Q122R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268568	NM_024034.6(GDAP1L1):c.310C>T (p.Arg104Cys)	GDAP1L1 (R104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213737	NM_024034.6(GDAP1L1):c.545G>A (p.Arg182His)	GDAP1L1 (R182H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206989	NM_024034.6(GDAP1L1):c.865T>C (p.Tyr289His)	GDAP1L1 (Y289H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979733	GRCh37/hg19 20q13.12(chr20:42778133-43079191)x1	R3HDML, OSER1 +4 more	Copy number loss	not provided	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 493564	GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3	PKIG, R3HDML +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 39