ClinVar for Gene (Select 53947) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111180	NM_017436.7(A4GALT):c.798C>G (p.Ser266Arg)	A4GALT (S266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109640	NM_017436.7(A4GALT):c.559G>A (p.Gly187Ser)	A4GALT (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109101	NM_017436.7(A4GALT):c.503C>T (p.Pro168Leu)	A4GALT (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108288	NM_017436.7(A4GALT):c.451C>T (p.Arg151Trp)	A4GALT (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107435	NM_017436.7(A4GALT):c.41G>A (p.Gly14Asp)	A4GALT (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106864	NM_017436.7(A4GALT):c.304G>A (p.Ala102Thr)	A4GALT (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062439	GRCh37/hg19 22q13.2(chr22:43050979-43264400)x3	A4GALT, ARFGAP3	Copy number gain	not specified	GUncertain significance
Select item 3046625	NM_017436.7(A4GALT):c.54G>A (p.Gln18=)	A4GALT	Single nucleotide variant (synonymous variant)	A4GALT-related condition	GLikely benign
Select item 3046368	NM_017436.7(A4GALT):c.516C>T (p.Pro172=)	A4GALT	Single nucleotide variant (synonymous variant)	A4GALT-related condition	GLikely benign
Select item 2969283	NM_017436.7(A4GALT):c.264C>T (p.Thr88=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908261	NM_017436.7(A4GALT):c.375C>T (p.Pro125=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896954	NM_017436.7(A4GALT):c.291G>A (p.Ser97=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895012	NM_017436.7(A4GALT):c.804C>G (p.Ala268=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889036	NM_017436.7(A4GALT):c.203C>T (p.Thr68Ile)	A4GALT (T68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881478	NM_017436.7(A4GALT):c.456C>T (p.Asp152=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844062	NM_017436.7(A4GALT):c.269C>A (p.Pro90His)	A4GALT (P90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796463	NM_017436.7(A4GALT):c.72C>T (p.Phe24=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786201	NM_017436.7(A4GALT):c.703C>T (p.Arg235Trp)	A4GALT (R235W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723371	NM_017436.7(A4GALT):c.1056C>T (p.Tyr352=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711695	NM_017436.7(A4GALT):c.327C>T (p.His109=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696706	NM_017436.7(A4GALT):c.221C>A (p.Pro74His)	A4GALT (P74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685680	GRCh37/hg19 22q13.2(chr22:43107917-43260433)x1	A4GALT, ARFGAP3	Copy number loss	not provided	GUncertain significance
Select item 2620685	NM_017436.7(A4GALT):c.440G>A (p.Arg147Gln)	A4GALT (R147Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605581	NM_017436.7(A4GALT):c.957G>C (p.Lys319Asn)	A4GALT (K319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552259	NM_017436.7(A4GALT):c.767G>A (p.Arg256Gln)	A4GALT (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549478	NM_017436.7(A4GALT):c.328G>A (p.Val110Met)	A4GALT (V110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524284	NM_017436.7(A4GALT):c.41G>C (p.Gly14Ala)	A4GALT (G14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516437	NM_017436.7(A4GALT):c.1022A>G (p.Tyr341Cys)	A4GALT (Y341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490751	NM_017436.7(A4GALT):c.815C>A (p.Ala272Asp)	A4GALT (A272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462902	NM_017436.7(A4GALT):c.478G>A (p.Ala160Thr)	A4GALT (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459013	NM_017436.7(A4GALT):c.548T>C (p.Met183Thr)	A4GALT (M183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	NFAM1, SMDT1 +11 more	Deletion	not provided	GPathogenic
Select item 2418322	NM_017436.7(A4GALT):c.79G>A (p.Gly27Ser)	A4GALT (G27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388544	NM_017436.7(A4GALT):c.125T>C (p.Val42Ala)	A4GALT (V42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375483	NM_017436.7(A4GALT):c.971C>T (p.Thr324Met)	A4GALT (T324M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2358648	NM_017436.7(A4GALT):c.986C>T (p.Thr329Met)	A4GALT (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351276	NM_017436.7(A4GALT):c.620T>G (p.Val207Gly)	A4GALT (V207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329537	NM_017436.7(A4GALT):c.578C>T (p.Thr193Met)	A4GALT (T193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292353	NM_017436.7(A4GALT):c.247G>C (p.Glu83Gln)	A4GALT (E83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283521	NM_017436.7(A4GALT):c.148G>A (p.Gly50Arg)	A4GALT (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267994	NM_017436.7(A4GALT):c.46C>T (p.Pro16Ser)	A4GALT (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252571	NM_017436.7(A4GALT):c.906G>C (p.Glu302Asp)	A4GALT (E302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216333	NM_017436.7(A4GALT):c.640T>A (p.Tyr214Asn)	A4GALT (Y214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189448	NM_017436.7(A4GALT):c.306C>G (p.Ala102=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2175522	NM_017436.7(A4GALT):c.670G>A (p.Glu224Lys)	A4GALT (E224K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171164	NM_017436.7(A4GALT):c.914C>T (p.Pro305Leu)	A4GALT (P305L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141685	NM_017436.7(A4GALT):c.205C>T (p.Pro69Ser)	A4GALT (P69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138456	NM_017436.7(A4GALT):c.656C>T (p.Ala219Val)	A4GALT (A219V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117036	NM_017436.7(A4GALT):c.478G>T (p.Ala160Ser)	A4GALT (A160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086919	NM_017436.7(A4GALT):c.652G>A (p.Gly218Ser)	A4GALT (G218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073272	NM_017436.7(A4GALT):c.44C>G (p.Ala15Gly)	A4GALT (A15G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057176	NM_017436.7(A4GALT):c.299C>T (p.Ser100Leu)	A4GALT (S100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052630	NM_017436.7(A4GALT):c.441G>A (p.Arg147=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2045772	NM_017436.7(A4GALT):c.936T>C (p.Tyr312=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043930	NM_017436.7(A4GALT):c.494G>A (p.Arg165His)	A4GALT (R165H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2041926	NM_017436.7(A4GALT):c.93G>A (p.Thr31=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032708	NM_017436.7(A4GALT):c.587T>C (p.Ile196Thr)	A4GALT (I196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998299	NM_017436.7(A4GALT):c.558C>G (p.Phe186Leu)	A4GALT (F186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941445	NM_017436.7(A4GALT):c.10C>T (p.Pro4Ser)	A4GALT (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937811	NM_017436.7(A4GALT):c.995C>T (p.Ala332Val)	A4GALT (A332V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910968	NM_017436.7(A4GALT):c.513G>A (p.Leu171=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704313	GRCh37/hg19 22q13.2(chr22:43103054-43207442)x1	A4GALT, ARFGAP3	Copy number loss	HETEROTAXY, TGA	GPathogenic
Select item 1634308	NM_017436.7(A4GALT):c.100G>A (p.Val34Ile)	A4GALT (V34I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1632693	NM_017436.7(A4GALT):c.525C>T (p.Ser175=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600764	NM_017436.7(A4GALT):c.558C>T (p.Phe186=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600484	NM_017436.7(A4GALT):c.987G>A (p.Thr329=)	A4GALT	Single nucleotide variant (synonymous variant)	A4GALT-related condition +1 more	GBenign
Select item 1595001	NM_017436.7(A4GALT):c.759G>A (p.Leu253=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529533	NM_017436.7(A4GALT):c.109A>G (p.Met37Val)	A4GALT (M37V)	Single nucleotide variant (missense variant)	A4GALT-related condition +1 more	GBenign
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1516275	NM_017436.7(A4GALT):c.28C>T (p.Arg10Trp)	A4GALT (R10W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493856	NM_017436.7(A4GALT):c.776A>G (p.Lys259Arg)	A4GALT (K259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483587	NM_017436.7(A4GALT):c.339_340delinsTT (p.Met114Leu)	A4GALT (M114L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1448665	NC_000022.10:g.(?_43015779)_(43089957_?)del	CYB5R3, A4GALT +1 more	Deletion	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	A4GALT, ACO2 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1438947	NM_017436.7(A4GALT):c.628A>C (p.Thr210Pro)	A4GALT (T210P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385893	NM_017436.7(A4GALT):c.1018C>T (p.Arg340Cys)	A4GALT (R340C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346328	NM_017436.7(A4GALT):c.334G>A (p.Val112Ile)	A4GALT (V112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1221433	NM_017436.7(A4GALT):c.903C>G (p.Pro301=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1049089	NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr)	A4GALT (D298Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 786384	NM_017436.7(A4GALT):c.488A>G (p.Gln163Arg)	A4GALT (Q163R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778957	NM_017436.7(A4GALT):c.300G>C (p.Ser100=)	A4GALT	Single nucleotide variant (synonymous variant)	A4GALT-related condition +1 more	GBenign
Select item 777729	NM_017436.7(A4GALT):c.669C>T (p.Phe223=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718696	NM_017436.7(A4GALT):c.367T>C (p.Ser123Pro)	A4GALT (S123P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688285	GRCh37/hg19 22q13.2(chr22:43059474-43145703)x1	A4GALT	Copy number loss	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic

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