11003[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +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	SLC29A1	Single nucleotide variant (intron variant)	SLC29A1-related disorder	GLikely benign
Select item 3040920	NM_001372327.1(SLC29A1):c.-52+8C>T	SLC29A1	Single nucleotide variant (5 prime UTR variant +1 more)	SLC29A1-related disorder	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=)	SLC29A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2211049	NM_001372327.1(SLC29A1):c.194C>T (p.Ala65Val)	SLC29A1 (A90V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319416	NM_001372327.1(SLC29A1):c.325T>C (p.Ser109Pro)	SLC29A1 (S109P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591428	NM_001372327.1(SLC29A1):c.326C>T (p.Ser109Phe)	SLC29A1 (S134F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487108	NM_001372327.1(SLC29A1):c.440T>C (p.Ile147Thr)	SLC29A1 (I147T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164052	NM_001372327.1(SLC29A1):c.441C>G (p.Ile147Met)	SLC29A1 (I173M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412142	NM_001372327.1(SLC29A1):c.442G>A (p.Val148Met)	SLC29A1 (V148M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204303	NM_001372327.1(SLC29A1):c.565G>A (p.Val189Met)	SLC29A1 (V214M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780624	NM_001372327.1(SLC29A1):c.590-9C>T	SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764618	NM_001372327.1(SLC29A1):c.618C>T (p.Phe206=)	SLC29A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319415	NM_001372327.1(SLC29A1):c.661A>G (p.Ile221Val)	SLC29A1 (I221V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164053	NM_001372327.1(SLC29A1):c.673G>A (p.Gly225Ser)	SLC29A1 (G225S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780625	NM_001372327.1(SLC29A1):c.767-5C>T	SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780626	NM_001372327.1(SLC29A1):c.864+4C>T	SLC29A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2510501	NM_001372327.1(SLC29A1):c.902C>A (p.Thr301Asn)	SLC29A1 (T326N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293190	NM_001372327.1(SLC29A1):c.977G>A (p.Arg326His)	SLC29A1 (R351H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319418	NM_001372327.1(SLC29A1):c.1029G>C (p.Leu343Phe)	SLC29A1 (L422F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371027	NM_001372327.1(SLC29A1):c.1087A>G (p.Ser363Gly)	SLC29A1 (S363G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164050	NM_001372327.1(SLC29A1):c.1147C>T (p.Arg383Cys)	SLC29A1 (R462C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 429191	NM_001372327.1(SLC29A1):c.1159A>C (p.Thr387Pro)	SLC29A1 (T387P +3 more)	Single nucleotide variant (missense variant)	Hemolytic disease of fetus OR newborn due to isoimmunization	GPathogenic
Select item 2343132	NM_001372327.1(SLC29A1):c.1205C>T (p.Ala402Val)	SLC29A1 (A402V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725152	NM_001372327.1(SLC29A1):c.1260-7C>T	SLC29A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3164051	NM_001372327.1(SLC29A1):c.1337C>T (p.Ala446Val)	SLC29A1 (A446V +3 more)	Single nucleotide variant (missense variant)	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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 37