SLC29A1[gene] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 3044005	NM_001304462.2(SLC29A1):c.87-8T>A	POLR1C, SLC29A1	Single nucleotide variant (intron variant)	SLC29A1-related condition	GLikely benign
Select item 3040920	NM_001372327.1(SLC29A1):c.-52+8C>T	POLR1C, SLC29A1	Single nucleotide variant (5 prime UTR variant +1 more)	SLC29A1-related condition	GLikely benign
Select item 694080	NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)	SLC29A1, POLR1C (P33L +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 712635	NM_001372327.1(SLC29A1):c.84G>A (p.Pro28=)	POLR1C, SLC29A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2211049	NM_001372327.1(SLC29A1):c.194C>T (p.Ala65Val)	POLR1C, SLC29A1 (A90V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591428	NM_001372327.1(SLC29A1):c.326C>T (p.Ser109Phe)	POLR1C, SLC29A1 (S134F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487108	NM_001372327.1(SLC29A1):c.440T>C (p.Ile147Thr)	POLR1C, SLC29A1 (I147T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164052	NM_001372327.1(SLC29A1):c.441C>G (p.Ile147Met)	POLR1C, SLC29A1 (I173M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412142	NM_001372327.1(SLC29A1):c.442G>A (p.Val148Met)	POLR1C, SLC29A1 (V148M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2204303	NM_001372327.1(SLC29A1):c.565G>A (p.Val189Met)	POLR1C, SLC29A1 (V214M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780624	NM_001372327.1(SLC29A1):c.590-9C>T	POLR1C, SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764618	NM_001372327.1(SLC29A1):c.618C>T (p.Phe206=)	POLR1C, SLC29A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164053	NM_001372327.1(SLC29A1):c.673G>A (p.Gly225Ser)	POLR1C, SLC29A1 (G225S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780625	NM_001372327.1(SLC29A1):c.767-5C>T	POLR1C, SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780626	NM_001372327.1(SLC29A1):c.864+4C>T	POLR1C, SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2510501	NM_001372327.1(SLC29A1):c.902C>A (p.Thr301Asn)	POLR1C, SLC29A1 (T326N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293190	NM_001372327.1(SLC29A1):c.977G>A (p.Arg326His)	POLR1C, SLC29A1 (R351H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371027	NM_001372327.1(SLC29A1):c.1087A>G (p.Ser363Gly)	POLR1C, SLC29A1 (S363G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164050	NM_001372327.1(SLC29A1):c.1147C>T (p.Arg383Cys)	POLR1C, SLC29A1 (R462C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 429191	NM_001372327.1(SLC29A1):c.1159A>C (p.Thr387Pro)	POLR1C, SLC29A1 (T387P +3 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic disease of fetus OR newborn due to isoimmunization	GPathogenic
Select item 2343132	NM_001372327.1(SLC29A1):c.1205C>T (p.Ala402Val)	POLR1C, SLC29A1 (A402V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725152	NM_001372327.1(SLC29A1):c.1260-7C>T	POLR1C, SLC29A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3164051	NM_001372327.1(SLC29A1):c.1337C>T (p.Ala446Val)	POLR1C, SLC29A1 (A446V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 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

Search results

Items: 34