ClinVar for Gene (Select 3267) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3095428	NM_004504.5(AGFG1):c.71C>T (p.Pro24Leu)	AGFG1, LOC129935737 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095414	NM_004504.5(AGFG1):c.478C>A (p.Leu160Met)	AGFG1 (L160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095404	NM_004504.5(AGFG1):c.1672A>G (p.Thr558Ala)	AGFG1 (T556A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095387	NM_004504.5(AGFG1):c.1007T>C (p.Ile336Thr)	AGFG1 (I296T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685881	GRCh37/hg19 2q36.3(chr2:228355418-229592972)x3	AGFG1, C2orf83 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651962	NM_004504.5(AGFG1):c.1533C>T (p.Pro511=)	AGFG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651961	NM_004504.5(AGFG1):c.1179G>A (p.Ala393=)	AGFG1, LOC129935738	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651960	NM_004504.5(AGFG1):c.416T>C (p.Val139Ala)	AGFG1 (V139A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2611564	NM_004504.5(AGFG1):c.644C>T (p.Ser215Leu)	AGFG1 (S215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601146	NM_004504.5(AGFG1):c.1339T>C (p.Ser447Pro)	AGFG1 (S471P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600116	NM_004504.5(AGFG1):c.341A>G (p.Lys114Arg)	AGFG1 (K114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597165	NM_004504.5(AGFG1):c.1247C>T (p.Thr416Ile)	AGFG1 (T376I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528217	NM_004504.5(AGFG1):c.1277C>T (p.Pro426Leu)	AGFG1 (P386L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477954	NM_004504.5(AGFG1):c.631C>T (p.Pro211Ser)	AGFG1 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473774	NM_004504.5(AGFG1):c.946A>G (p.Thr316Ala)	AGFG1 (T316A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472410	NM_004504.5(AGFG1):c.1004A>G (p.Asn335Ser)	AGFG1 (N335S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426892	NC_000002.11:g.(?_227659726)_(228567034_?)dup	AGFG1, C2orf83 +7 more	Duplication	not provided	GUncertain significance
Select item 2338185	NM_004504.5(AGFG1):c.629C>T (p.Ala210Val)	AGFG1 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318505	NM_004504.5(AGFG1):c.814+955G>A	AGFG1 (S281N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280875	NM_004504.5(AGFG1):c.1219A>C (p.Thr407Pro)	AGFG1 (T367P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280139	NM_004504.5(AGFG1):c.1063G>C (p.Ala355Pro)	AGFG1 (A315P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262127	NM_004504.5(AGFG1):c.722C>T (p.Ala241Val)	AGFG1 (A241V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256740	NM_004504.5(AGFG1):c.346T>A (p.Phe116Ile)	AGFG1 (F116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219813	NM_004504.5(AGFG1):c.790T>A (p.Ser264Thr)	AGFG1 (S264T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980012	GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1	SPHKAP, MFF +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 758751	NM_004504.5(AGFG1):c.1050G>A (p.Gly350=)	AGFG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726407	NM_004504.5(AGFG1):c.814+958T>C	AGFG1 (F282S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 688393	GRCh37/hg19 2q36.3(chr2:228036577-228481611)x1	AGFG1, C2orf83 +3 more	Copy number loss	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49