ACR[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731265	NM_001097.3(ACR):c.1A>G (p.Met1Val)	ACR (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 739791	NM_001097.3(ACR):c.66C>T (p.Asn22=)	ACR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727057	NM_001097.3(ACR):c.71C>T (p.Thr24Met)	ACR (T24M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2589607	NM_001097.3(ACR):c.130G>A (p.Val44Ile)	ACR (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566375	NM_001097.3(ACR):c.142G>T (p.Ala48Ser)	ACR (A48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577998	NM_001097.3(ACR):c.167G>A (p.Trp56Ter)	ACR	Single nucleotide variant (nonsense)	Spermatogenic failure 87	GPathogenic
Select item 2359089	NM_001097.3(ACR):c.191C>T (p.Thr64Met)	ACR (T64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262516	NM_001097.3(ACR):c.284A>G (p.Asn95Ser)	ACR (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139158	NM_001097.3(ACR):c.310G>A (p.Gly104Arg)	ACR (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402335	NM_001097.3(ACR):c.566-4A>G	ACR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3262507	NM_001097.3(ACR):c.599G>A (p.Arg200His)	ACR (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287811	NM_001097.3(ACR):c.599G>C (p.Arg200Pro)	ACR (R200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139161	NM_001097.3(ACR):c.676G>A (p.Ala226Thr)	ACR (A226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262540	NM_001097.3(ACR):c.704C>A (p.Thr235Asn)	ACR (T235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262525	NM_001097.3(ACR):c.791T>C (p.Val264Ala)	ACR (V264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139164	NM_001097.3(ACR):c.802C>T (p.Arg268Cys)	ACR (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570438	NM_001097.3(ACR):c.817G>A (p.Gly273Arg)	ACR (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377585	NM_001097.3(ACR):c.883C>T (p.Arg295Cys)	ACR (R295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590596	NM_001097.3(ACR):c.884G>A (p.Arg295His)	ACR (R295H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 402336	NM_001097.3(ACR):c.886A>G (p.Met296Val)	ACR (M296V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3262533	NM_001097.3(ACR):c.896C>T (p.Ser299Leu)	ACR (S299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139175	NM_001097.3(ACR):c.914C>T (p.Pro305Leu)	ACR (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139178	NM_001097.3(ACR):c.926C>T (p.Pro309Leu)	ACR (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139179	NM_001097.3(ACR):c.932C>T (p.Pro311Leu)	ACR (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139183	NM_001097.3(ACR):c.988C>T (p.Pro330Ser)	ACR (P330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321902	NM_001097.3(ACR):c.995C>G (p.Pro332Arg)	ACR (P332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139196	NM_001097.3(ACR):c.998G>A (p.Arg333Gln)	ACR (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530228	NM_001097.3(ACR):c.1013G>A (p.Arg338Gln)	ACR (R338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307085	NM_001097.3(ACR):c.1015C>A (p.Pro339Thr)	ACR (P339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213560	NM_001097.3(ACR):c.1043C>T (p.Pro348Leu)	ACR (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527925	NM_001097.3(ACR):c.1189G>C (p.Gly397Arg)	ACR (G397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598755	NM_001097.3(ACR):c.1217A>G (p.His406Arg)	ACR (H406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139150	NM_001097.3(ACR):c.1259C>T (p.Thr420Ile)	ACR (T420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33