ClinVar for Gene (Select 10736) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162569	NM_016932.5(SIX2):c.818G>A (p.Gly273Asp)	SIX2 (G273D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162568	NM_016932.5(SIX2):c.634T>C (p.Ser212Pro)	SIX2 (S212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162567	NM_016932.5(SIX2):c.439C>A (p.Pro147Thr)	SIX2 (P147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056604	NM_016932.5(SIX2):c.853A>C (p.Asn285His)	SIX2 (N285H)	Single nucleotide variant (missense variant)	SIX2-related disorder	GBenign
Select item 3048230	NM_016932.5(SIX2):c.560+4_560+9del	SIX2	Deletion (splice donor variant)	SIX2-related disorder	GLikely benign
Select item 3038212	NM_016932.5(SIX2):c.-8C>T	SIX2	Single nucleotide variant (5 prime UTR variant)	SIX2-related disorder	GLikely benign
Select item 3038004	NM_016932.5(SIX2):c.-2C>G	SIX2	Single nucleotide variant (5 prime UTR variant)	SIX2-related disorder	GLikely benign
Select item 3037201	NM_016932.5(SIX2):c.-7C>G	SIX2	Single nucleotide variant (5 prime UTR variant)	SIX2-related disorder	GLikely benign
Select item 3032849	NM_016932.5(SIX2):c.*6A>G	SIX2	Single nucleotide variant (3 prime UTR variant)	SIX2-related disorder	GLikely benign
Select item 3032722	NM_016932.5(SIX2):c.276C>T (p.Tyr92=)	SIX2	Single nucleotide variant (synonymous variant)	SIX2-related disorder	GLikely benign
Select item 2989164	NM_016932.5(SIX2):c.252G>A (p.Gln84=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969591	NM_016932.5(SIX2):c.783C>T (p.Gly261=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961892	NM_016932.5(SIX2):c.723G>A (p.Pro241=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906746	NM_016932.5(SIX2):c.599C>T (p.Pro200Leu)	SIX2 (P200L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885927	NM_016932.5(SIX2):c.45G>T (p.Ala15=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876736	NM_016932.5(SIX2):c.568A>G (p.Asn190Asp)	SIX2 (N190D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795417	NM_016932.5(SIX2):c.88C>T (p.Leu30=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782068	NM_016932.5(SIX2):c.762A>T (p.Ala254=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729397	NM_016932.5(SIX2):c.354G>C (p.Pro118=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716625	NM_016932.5(SIX2):c.561-10G>A	SIX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695637	NM_016932.5(SIX2):c.482C>G (p.Thr161Arg)	SIX2 (T161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689991	NM_016932.5(SIX2):c.230C>T (p.Pro77Leu)	SIX2 (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684486	GRCh37/hg19 2p21(chr2:45037498-45298668)x1	SIX2, SIX3	Copy number loss	not provided	GPathogenic
Select item 2650867	NM_016932.5(SIX2):c.282G>A (p.Glu94=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650866	NM_016932.5(SIX2):c.496A>C (p.Thr166Pro)	SIX2 (T166P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634456	NM_016932.5(SIX2):c.704C>T (p.Pro235Leu)	SIX2 (P235L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633406	NM_016932.5(SIX2):c.510C>A (p.Asn170Lys)	SIX2 (N170K)	Single nucleotide variant (missense variant)	SIX2-related disorder	GUncertain significance
Select item 2628743	NM_016932.5(SIX2):c.839A>G (p.Asn280Ser)	SIX2 (N280S)	Single nucleotide variant (missense variant)	SIX2-related disorder	GUncertain significance
Select item 2598371	NM_016932.5(SIX2):c.635C>T (p.Ser212Leu)	SIX2 (S212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498817	NM_016932.5(SIX2):c.600G>A (p.Pro200=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425348	NC_000002.11:g.(?_45169244)_(45236249_?)dup	SIX2, SIX3	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2350280	NM_016932.5(SIX2):c.749C>T (p.Pro250Leu)	SIX2 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2185533	NM_016932.5(SIX2):c.773C>T (p.Pro258Leu)	SIX2 (P258L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2184901	NM_016932.5(SIX2):c.705G>A (p.Pro235=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2183703	NM_016932.5(SIX2):c.694C>A (p.Leu232Ile)	SIX2 (L232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171566	NM_016932.5(SIX2):c.621G>A (p.Ser207=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141170	NM_016932.5(SIX2):c.546C>G (p.Ala182=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080917	NM_016932.5(SIX2):c.126C>G (p.His42Gln)	SIX2 (H42Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2071511	NM_016932.5(SIX2):c.659G>T (p.Gly220Val)	SIX2 (G220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062897	NM_016932.5(SIX2):c.791G>A (p.Gly264Glu)	SIX2 (G264E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049895	NM_016932.5(SIX2):c.822G>T (p.Leu274=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049063	NM_016932.5(SIX2):c.764T>C (p.Val255Ala)	SIX2 (V255A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2046846	NM_016932.5(SIX2):c.795G>A (p.Ala265=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2009851	NM_016932.5(SIX2):c.837C>T (p.Leu279=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007252	NM_016932.5(SIX2):c.1A>G (p.Met1Val)	SIX2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949132	NM_016932.5(SIX2):c.580A>G (p.Asn194Asp)	SIX2 (N194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944469	NM_016932.5(SIX2):c.171C>T (p.Ala57=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942860	NM_016932.5(SIX2):c.123G>A (p.Glu41=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942436	NM_016932.5(SIX2):c.750G>C (p.Pro250=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936717	NM_016932.5(SIX2):c.781G>A (p.Gly261Ser)	SIX2 (G261S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1922578	NM_016932.5(SIX2):c.561-11C>T	SIX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922276	NM_016932.5(SIX2):c.798C>T (p.Asp266=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898734	NM_016932.5(SIX2):c.565AAC[1] (p.Asn190del)	SIX2 (N190del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1897847	NM_016932.5(SIX2):c.687C>T (p.Pro229=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1569693	NM_016932.5(SIX2):c.774G>C (p.Pro258=)	SIX2	Single nucleotide variant (synonymous variant)	SIX2-related disorder +1 more	GLikely benign
Select item 1341205	GRCh37/hg19 2p21(chr2:45194853-45370709)x1	SIX2	Copy number loss	not provided	GUncertain significance
Select item 1318082	NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)	SIX2 (P241L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1288376	NC_000002.12:g.45009664T>G	SIX2	Single nucleotide variant	not provided	GBenign
Select item 1243191	NM_016932.5(SIX2):c.561-152G>C	SIX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221005	NM_016932.5(SIX2):c.561-178C>A	SIX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 633690	NM_016932.5(SIX2):c.859G>A (p.Val287Met)	SIX2 (V287M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591910	NM_016932.5(SIX2):c.337C>T (p.Arg113Cys)	SIX2 (R113C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	GALM, GEMIN6 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 393288	NM_016932.5(SIX2):c.760G>A (p.Ala254Thr)	SIX2 (A254T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 224349	NM_016932.5(SIX2):c.707C>T (p.Pro236Leu)	SIX2 (P236L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 148499	GRCh38/hg38 2p21(chr2:44893684-45016061)x3	LINC01833, LOC129933631 +5 more	Copy number gain	See cases	GUncertain significance
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 144278	GRCh38/hg38 2p21(chr2:44942723-45431847)x3	LINC01121, LOC122757931 +6 more	Copy number gain	See cases	GUncertain significance
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 80